Novel Compound Heterozygous Variants In Dynein Axonemal Heavy Chain 17 Cause Asthenoteratospermia With Sperm Flagellar Defects

The axoneme of the human sperm has a very similar ultrastructure to motile cilia, the "9+2" structure, comprising nine peripheral double microtubules plus two central pairs （Nicastro et al.,2006; Ishikawa, 2017）. A proteomics analysis identified more than700 proteins exclusively in the sperm tail, and abnormal expression of related genes can cause male infertility with multiple morphological abnormalities of flagella （MMAF）, including absent, coiled,short, and irregular-caliber flagella （Baker et al., 2013; Coutton et al., 2015）.